January 29, 2008
1 SNP to rule them & in the darkness bind them?
Last year a group out of Australia published a paper which purported to explain eye color variation based upon a polymorphism around the OCA2 locus. The paper was A Three-Single-Nucleotide Polymorphism Haplotype in Intron 1 of OCA2 Explains Most Human Eye-Color Variation, and I blogged it here. Basically the paper showed that three SNPs arranged on several haplotypes could be plugged into a function to generate a relatively good prediction of eye color. Why does this matter? First, because eye color is one of the first things you learn about "genetics" in high school, but we're still stuck in the theoretical Mendelian land where we have to infer from inheritance patterns of putative loci instead of knowing where they are empirically in reality. I remember one girl in high school being taken a back learning that blue eyed parents could not have brown eyed children, ever, she being a brown eyed daughter of blue eyed parents and with no knowledge of adoption. Second, there are forensic uses that might be made of knowledge of the genes which control physical appearance. Finally, there are some interesting evolutionary questions which emerge out of examining salient phenotypic characteristics which vary between populations. As most of you probably know, light eye color is predominantly a European trait. I have argued before that it emerged because of its affect on skin color, with eye color being a secondary byproduct, in the recent evolutionary past (i.e., last 10,000 years).
Filed under Genetics Discussions by Gene Expression
















